Linked Data
dbSNP Id:
rs1708152336
gnomAD v3:
3-93874350-C-A
gnomAD v4:
3-93874350-C-A
MyVariant Identifiers:
chr3:g.93593194C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874350C>A , CM000665.2:g.93874350C>A | GRCh38 |
| NC_000003.11:g.93593194C>A , CM000665.1:g.93593194C>A | GRCh37 |
| NC_000003.10:g.95075884C>A | NCBI36 |
| NG_009813.1:g.104741G>T , LRG_572:g.104741G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1926G>T | ENSP00000330021.7:p.Val642= | |
| ENST00000394236.9:c.1926G>T MANE Select | ENSP00000377783.3:p.Val642= | |
| ENST00000407433.6:c.1881G>T | ENSP00000385794.2:p.Val627= | |
| ENST00000647936.1:c.*29G>T | ENSP00000496822.1:n.*29G>T | |
| ENST00000648381.1:n.2094G>T | ||
| ENST00000648853.1:c.1884G>T | ENSP00000497262.1:p.Val628= | |
| ENST00000650591.1:c.2022G>T | ENSP00000497376.1:p.Val674= | |
| ENST00000394236.7:c.1926G>T | ENSP00000377783.3:p.Val642= | |
| ENST00000407433.5:c.1533G>T | ENSP00000385794.1:p.Val511= | |
| NM_000313.3:c.1926G>T , LRG_572t1:c.1926G>T | NP_000304.2:p.Val642= | |
| NM_001314077.1:c.2022G>T , LRG_572t2:c.2022G>T | NP_001301006.1:p.Val674= | |
| NM_000313.4:c.1926G>T MANE Select | NP_000304.2:p.Val642= | |
| NM_001314077.2:c.2022G>T | NP_001301006.1:p.Val674= |